- Subtable 1 Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
- Subtable 2 FHL Syndromes with Hypopigmentation
- Subtable 3 Regulatory T Cell Defects
- Subtable 4 Autoimmunity with or without Lymphoproliferation
- Subtable 5 Immune Dysregulation with Colitis
- Subtable 6 Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
- Subtable 7 Susceptibility to EBV and Lymphoproliferative Conditions
|
Subtable 1 Familial Hemophagocytic Lymphohistiocytosis (FHL syndromes)
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| FAAP24 deficiency |
FAAP24 |
AR |
|
|
| Perforin deficiency (FHL2) |
PRF1 |
AR |
|
|
| Lysinuric protein intolerance SLC7A7 deficiency |
SLC7A7 |
AR |
|
|
| Syntaxin 11 deficiency (FHL4) |
STX11 |
AR |
|
|
| STXBP2 / Munc18-2 deficiency (FHL5) |
STXBP2 |
AR or AD |
|
|
| UNC13D / Munc13-4 deficiency (FHL3) |
UNC13D |
AR |
|
|
Subtable 2 FHL Syndromes with Hypopigmentation
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| Hermansky-Pudlak syndrome, type 2 |
AP3B1 |
AR |
D76.1 |
|
| Hermansky-Pudlak syndrome, type 10 |
AP3D1 |
AR |
D76.1 |
|
| Chediak-Higashi syndrome |
LYST |
AR |
D76.1 |
|
| Griscelli syndrome, type 2 |
RAB27A |
AR |
D76.1 |
|
Subtable 3 Regulatory T Cell Defects
|
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| BACH2 deficiency |
BACH2 |
AD |
D81.8 |
|
| CTLA4 deficiency (ALPSV) |
CTLA4 |
AD |
D81.8 |
|
| DEF6 deficiency |
DEF6 |
AR |
|
|
| FERMT1 deficiency (Kindler syndrome) |
FERMT1 |
AR |
|
|
| IPEX, immune dysregulation, polyendocrinopathy, enteropathy X-linked |
FOXP3 |
XL |
D82.9 |
|
| CD25 deficiency |
IL2RA |
AR |
D81.8 |
|
| CD122 deficiency |
IL2RB |
AR |
|
|
| LRBA deficiency |
LRBA |
AR |
D81.8 |
|
| STAT3 GOF mutation |
STAT3 |
AD (GOF) |
D81.8 |
|
Subtable 4 Autoimmunity with or without Lymphoproliferation
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy |
AIRE |
AR |
D81.8 |
|
| APECED (APS-1), autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy |
AIRE |
AD |
D81.8 |
|
| ITCH deficiency |
ITCH |
AR |
D81.8 |
|
| JAK1 GOF |
JAK1 |
AD GOF |
D81.8 |
|
| Prolidase deficiency |
PEPD |
AR |
D81.8 |
|
| Tripeptidyl-Peptidase II Deficiency |
TPP2 |
AR |
D81.8 |
|
Subtable 5 Immune Dysregulation with Colitis
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| IL-10 deficiency |
IL10 |
AR |
D82.8 |
|
| IL-10Ra deficiency |
IL10RA |
AR |
D82.8 |
|
| IL-10Rb deficiency |
IL10RB |
AR |
D82.8 |
|
| NFAT5 haploinsufficiency |
NFAT5 |
AD |
D82.8 |
|
| RIPK1 deficiency |
RIPK1 |
AR |
D82.8 |
|
| TGFB1 deficiency |
TGFB1 |
AR |
D82.8 |
|
Subtable 6 Autoimmune Lymphoproliferative Syndrome (ALPS, Canale Smith syndrome)
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| ALPS-Caspase10 |
CASP10 |
AD |
D89.82 |
|
| ALPS-Caspase 8 |
CASP8 |
AR |
D89.82 |
|
| FADD deficiency |
FADD |
AR |
D89.82 |
|
| ALPS-FAS |
TNFRSF6 |
AD or AR |
D89.82 |
|
| ALPS-FASLG |
TNFSF6 |
AR |
D89.82 |
|
Subtable 7 Susceptibility to EBV and Lymphoproliferative Conditions
|
| Disease |
Genetic defect |
Inheri-tance |
ICD10 |
SLIPI:s riktlinjer |
| RLTPR (CARMIL2) deficiency |
CARMIL2 |
AR |
D82.3 |
|
| CD27 deficiency |
CD27 |
AR |
D82.3 |
|
| CD70 deficiency |
CD70 |
AR |
D82.3 |
|
| CTPS1 deficiency |
CTPS1 |
AR |
D82.3 |
|
| MAGT1 deficiency (XMEN) |
MAGT1 |
XL |
D82.3 |
|
| PRKCD deficiency |
PRKCD |
AR |
D82.3 |
|
| RASGRP1 deficiency |
RASGRP1 |
AR |
D82.3 |
|
| SH2D1A (SAP) deficiency (XLP1) |
SH2D1A |
XL |
D82.3 |
|
| CD137 deficiency (41BB) |
TNFRSF9 |
AR |
|
|
| XIAP deficiency (XLP2) |
XIAP |
XL |
D82.3 |
|
| |
|
|
|
|
Till Diagnoser - Major Categories
